You can call me Jean Gossip.
I am 76 and was born in Aberdeen, Scotland. We moved, as a family (3 children), to Australia in 1991 when my husband took up the Chair of French at the University of New England, here in Armidale, NSW. I have an honours degree in French language and literature and was, in fact, taught by my husband in Aberdeen before we got married! I am also a trained teacher of French and Spanish.
My father and elder brother both had/have SCA6 so I knew what I was possibly in for. When Dad was alive, it took a long time to identify what was wrong with him. I’m not sure when he was finally diagnosed. He lived till he was 92 as his heart was so strong but he certainly had not wanted to live that long. His end came with a bout of pneumonia and it was a relief all round. The last 10 years of his life were not pleasant. Luckily, he was well-enough off to pay for a team of nurses who looked after him, round the clock. He was once articulate, practical and also very clever and it was sad to see his body deteriorate, as it did. My brother is now quite hard to understand, as his speech is now affected. Walking is out of the question. However, Duncan is a determined soul and at nearly 79 he still works as a Chartered Accountant. I think it is that feeling of usefulness that keeps him going.
Living with SCA6
I was diagnosed, using genetic testing (blood test), in about 2012. My first symptoms were in my eyes – bad double vision. The optometrist, knowing my family history, suggested seeing a neurologist who, in turn, suggested the testing. She was hopeless and told me, when the first results came back, that I was free of the condition. We celebrated with champagne that night. Then, more results came back and, yes, I had SCA6.
My balance then started to go and walking became more and more difficult. I use a wheeled walker, everywhere, and now, occasionally, a wheelchair. I don’t get the exercise from the wheelchair but I do feel so much safer. It is the danger of fallling that concerns me most.
My eyes were operated on, over two years ago, by a pediatric opthalmologist and that was a great success. My eyes are now within the normal range – 35 something down to 7 something. My glasses were becoming so expensive, were having to be made in the States and they could no longer be made with bifocles etc etc.
I have had two big falls. One was in the kitchen. I managed to miss banging my head on anything surrounding me but I did fracture my T12 vertebra. I think I got over that very quickly. The second fall, near the garage, resulted in a break in my humerus – the bone between my shoulder and my elbow. Because of my SCA6, I was hospitalised for three weeks.
I damaged the nerve in my arm so that my hand was quite useless. That was in May 2020 and it is only now that my hand is working again. The nerve grows at 1mm a day, so a very slow business. At least, I now have the use of my hand back, thank goodness. It has been a hard time, only with the use of one arm but I worked hard at the exercises and am now reaping the benefit of my determination. I now use a stair lift to get up to our bedroom etc and I just love that. We can now stay in our own home for as long as we want. Chris, my husband, and I both love our house and are not in any hurry to move anywhere. I have a young Ezidi girl to clean for me and a gardener. So both are under control. Chris is now my official carer and receives a small, very small, allowance from the government to do this.
Life is not easy but there is, as yet, only one option. I believe in euthanasia but am not ready for that yet! I should love to make up my own mind as to the timing of my departure and I think that, in fact, would keep me alive. It would be like an insurance. There are still things in my life for me to enjoy, including a one-year-old grandson whom I adore. However, I am always going to miss something so I am not afraid to die.
I see my Ataxia specialist in February, in Sydney. Maybe he will have found something by then to help me. It is wonderful that all this research is going on.
My IVF daughter, who is now 37, has been tested and is, thankfully, free of SCA6. That was the best news. She would not get tested till I did, knowing that if she had it I definitely did too.
I suppose we could have a worse disease but it is still so nasty and life has dealt us a major blow. Everyone talks about fatigue and I certainly suffer from that. I try to pace myself so that I don’t get overtired. Gardening is one of my favorite hobbies and I try to a little, when I can. Even moving over the grass with the walker is very hard work. Chris is always nearby to see me safely installed, and help me up. If he were not around, in everything I do, I would certainly be ‘up the creek without a paddle’. I am blessed to have such a wonderful husband! I wish every sufferer all the best and every researcher all the answers! I am waiting and always hoping.